Canonical Allele Identifier: CA6199108

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77213973G>A , CM000673.2:g.77213973G>A	GRCh38
NC_000011.9:g.76925018G>A , CM000673.1:g.76925018G>A	GRCh37
NC_000011.8:g.76602666G>A	NCBI36
NG_009086.1:g.90709G>A
NG_009086.2:g.90728G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.6552G>A MANE Select	NP_000251.3:p.Thr2184=
ENST00000409709.9:c.6552G>A MANE Select	ENSP00000386331.3:p.Thr2184=
NM_000260.3:c.6552G>A	NP_000251.3:p.Thr2184=
NM_001127180.1:c.6432G>A	NP_001120652.1:p.Thr2144=
NM_001127180.2:c.6432G>A	NP_001120652.1:p.Thr2144=
NM_001369365.1:c.6405G>A	NP_001356294.1:p.Thr2135=
ENST00000409619.6:c.6405G>A	ENSP00000386635.2:p.Thr2135=
ENST00000409709.7:c.6552G>A	ENSP00000386331.3:p.Thr2184=
ENST00000458169.2:c.3978G>A	ENSP00000417017.2:p.Thr1326=
ENST00000458637.6:c.6432G>A	ENSP00000392185.2:p.Thr2144=
ENST00000481328.7:n.5102G>A
ENST00000605744.1:n.2066G>A
ENST00000670577.1:c.4353G>A
XM_005274012.2:c.6435G>A	XP_005274069.1:p.Thr2145=
XM_006718561.2:c.6438G>A	XP_006718624.1:p.Thr2146=
XM_017017780.1:c.6642G>A	XP_016873269.1:p.Thr2214=
XM_017017784.1:c.6525G>A	XP_016873273.1:p.Thr2175=
XM_017017788.1:c.6528G>A	XP_016873277.1:p.Thr2176=
XR_001747885.1:n.6631G>A
XR_001747887.1:n.6617G>A
XR_949941.1:n.6846G>A